OBJECTIVE: To summarize the clinical and genetic characteristics of children with Silver-Russell syndrome (SRS) and improve the recognition of this disease. METHODS: A retrospective analysis was conducted on the clinical manifestations and genetic testing results of 29 children with SRS diagnosed at the Children's Hospital Affiliated to Zhengzhou University between March 2016 and June 2025. RESULTS: The 29 children had included 18 boys and 11 girls, with the age ranging from 2 months to 16 years. Their primary clinical manifestations included postnatal growth retardation (100%), small for gestational age (SGA) (100%), characteristic facial features (90%), limb asymmetry (83%), feeding difficulties (76%), ulnar deviation of the fifth finger (69%), body mass index (BMI) of < -2 SD (62%), and abnormal bone age (55%), including 15 cases with delayed bone age for an average of 1.5 years and 1 case with advanced bone age for 2.5 years. Additional manifestations included abnormal sexual development in 11 cases (38%), dental malocclusion in 11 cases (38%), allergic diseases in 10 cases (34%), cardiac diseases in 9 cases (31%), skeletal abnormalities in 7 cases (24%), renal hypoplasia in 5 cases (17%), and abnormal cranial MRI findings in 5 cases (17%). Twenty children were treated with recombinant human growth hormone (rhGH) at a dose of 0.1 ~ 0.15 U/(kg.d). Among them, 7 cases achieved annual height increase of ≥ 10 cm, 11 cases achieved annual height increase of ≥ 5 ~ 9 cm, and 2 cases achieved annual height increase < 5 cm. Twenty three children exhibited hypomethylation of imprinted genes in the chromosome region of 11p15, 4 presented maternal uniparental disomy of chromosome 7 [UPD(7)mat], and 2 had harbored nonsense variants of the HMGA2 gene. CONCLUSION SRS patients may present with diverse clinical manifestations including postnatal growth retardation, SGA, characteristic facial features, limb asymmetry, feeding difficulties, and ulnar deviation of the fifth finger. Most patients may exhibit abnormal methylation in the 11p15 region. rhGH therapy can improve the height of these patients.
Humans ; Silver-Russell Syndrome/diagnosis* ; Male ; Female ; Child ; Child, Preschool ; Infant ; Adolescent ; Retrospective Studies

Objective This study examines the factors influencing oral frailty in the elderly community,develops a risk prediction model,and validates its efficacy,so as to provide references for identifying and preventing oral weakness in the elderly.Methods 556 elderly individuals from 4 communities were selected by convenience sampling from June to August 2024 in Zigong City Sichuan Province.They were randomly divided into a training group(383 cases)and a validation group(165 cases).Data were collected by a general information questionnaire,Social Frailty Scale,Geriatric Depression Scale,and the Oral Frailty Index-8 screening tool.Logistic regression was used to determine the influencing factors,and R software was used to establish a nomogram model for predicting the risk of oral frailty.Bootstrap method and the validation group were used for internally validation of the model.Calibration curve was used to evaluate the prediction performance of the model.Results 548 valid questionnaires were collected.The final model variables included whether the age ≥80 years,wearing removable dentures,reduced frequency of going out,brushing teeth less than twice a day,frequent dry mouth,increased difficulty in eating hard foods,and choking.The area under the receiver operating characteristic curve of the training group was 0.95(95％CI:0.93～0.97),and the best cutoff value was 0.687.The model achieved an accuracy of 87％,sensitivity of 91％,specificity of 85％,positive predictive value of 0.75,and negative predictive value of 0.95.The Hosmer-Lemeshow fitting test show that x2=3.036,P=0.932,indicating a good model fit.Conclusion The oral frailty prediction model demonstrated a good discrimination,calibration,and clinical utility,which can provide a scientific basis for the prevention and early screening of oral frailty in the elderly.

Objective Predictive value of mismatch repair(MMR)protein expression in endometrial cancer(EC)tissues and blood immune-inflammatory marker levels on postoperative survival.Methods A total of 118 patients with EC who were treated at Jiamusi Central Hospital from January 2017 to January 2020 were selected as study subjects.The status of MMR proteins in endometrial cancer tissues was analyzed by immunohistochemistry,and based on the staining results,patients were divided into a MMR-deficient group(dMMR group,n=40)and a MMR-proficient group(pMMR group,n=78).The preoperative systemic immune-inflammation index(SII)was calculated.The pelvic lymph node status of the patients was observed.Enzyme-linked im-munosorbent assay(ELISA)was used to detect serum levels of tumor necrosis factor-alpha(TNF-α),interleukin(IL)-1β,IL-6 and C-reactive protein(CRP)in the patients.Disease-free survival(DFS)and overall survival(OS)as well as their influencing factors were analyzed between the two groups.Results Comparison of age,FIGO stage,tumor histopathology,pelvic lymph node status and SII between the pMMR group and dMMR groups in patients,and the differences were statistically significant(Z/t/χ2=3.202～11.151,all P＜0.05).The average DFS of patients in pMMR group and dMMR group was 1 477 days and 756 days,the average OS was 1 588 and 826 days respectively,and the differences between the two groups were statistically significant(Log Rank χ2=24.804,30.411,all P<0.001).COX regression analysis showed that SII was an independent influencing factor of DFS in EC patients(Wald χ2=8.152,P<0.05).SII,pelvic lymph node status and MMR status were independent influencing factors of OS in EC patients(Wald χ2=7.066,5.936,6.971,all P<0.05).The ability of combining MMR status with SII to predict DFS and OS in EC patients was further improved,with AUC of 0.793 and 0.859,sensitivity of 72.4%and 75.0%,specificity of 78.3%and 80.0%,respectively.Conclusion MMR status and increased SII are independent influencing factors of poor postoperative prog-nosis of EC patients,and their combination is helpful to predict disease-free survival and overall survival of EC patients.

Objective Predictive value of mismatch repair(MMR)protein expression in endometrial cancer(EC)tissues and blood immune-inflammatory marker levels on postoperative survival.Methods A total of 118 patients with EC who were treated at Jiamusi Central Hospital from January 2017 to January 2020 were selected as study subjects.The status of MMR proteins in endometrial cancer tissues was analyzed by immunohistochemistry,and based on the staining results,patients were divided into a MMR-deficient group(dMMR group,n=40)and a MMR-proficient group(pMMR group,n=78).The preoperative systemic immune-inflammation index(SII)was calculated.The pelvic lymph node status of the patients was observed.Enzyme-linked im-munosorbent assay(ELISA)was used to detect serum levels of tumor necrosis factor-alpha(TNF-α),interleukin(IL)-1β,IL-6 and C-reactive protein(CRP)in the patients.Disease-free survival(DFS)and overall survival(OS)as well as their influencing factors were analyzed between the two groups.Results Comparison of age,FIGO stage,tumor histopathology,pelvic lymph node status and SII between the pMMR group and dMMR groups in patients,and the differences were statistically significant(Z/t/χ2=3.202～11.151,all P＜0.05).The average DFS of patients in pMMR group and dMMR group was 1 477 days and 756 days,the average OS was 1 588 and 826 days respectively,and the differences between the two groups were statistically significant(Log Rank χ2=24.804,30.411,all P<0.001).COX regression analysis showed that SII was an independent influencing factor of DFS in EC patients(Wald χ2=8.152,P<0.05).SII,pelvic lymph node status and MMR status were independent influencing factors of OS in EC patients(Wald χ2=7.066,5.936,6.971,all P<0.05).The ability of combining MMR status with SII to predict DFS and OS in EC patients was further improved,with AUC of 0.793 and 0.859,sensitivity of 72.4%and 75.0%,specificity of 78.3%and 80.0%,respectively.Conclusion MMR status and increased SII are independent influencing factors of poor postoperative prog-nosis of EC patients,and their combination is helpful to predict disease-free survival and overall survival of EC patients.

Objective This study aimed to apply the integrated Promoting Action on Research Implementation in Health Services(i-PARIHS)framework to translate best evidence into clinical practice,with the goal of reducing unplanned discontinua-tion of continuous renal replacement therapy(CRRT)and providing guidance for clinical staff.Methods A systematic search was conducted for guidelines,systematic reviews,evidence summaries,and expert consensus documents related to unplanned CRRT discontinuation.Retrieved literature underwent quality appraisal,synthesis,and integration.Through evidence-based group discussions,baseline clinical audits,and FAME(Feasibility,Appropriateness,Meaningfulness,Effectiveness)-based evi-dence appraisal,implementation strategies were developed across three i-PARIHS dimensions:context,recipients,and facilita-tion.Outcomes including unplanned CRRT discontinuation rates,average length of hospital stay,mortality,and nurse competen-cy were compared before and after evidence implementation.Results After evidence extraction,synthesis,and contextual adap-tation,a site-specific evidence translation model was established,comprising 16 audit criteria with corresponding review methods.Following implementation,significant reductions were observed in unplanned CRRT discontinuation rates,average length of stay,and mortality(all P＜0.05).Nurses' nursing competency also improved significantly(P＜0.05),indicating a positive impact of the evidence translation initiative.Conclusion The i-PARIHS framework effectively reduces unplanned CRRT discontinuation and is applicable in clinical practice.The results offer evidence for improving nursing quality and offering a reference for future evidence translation initiatives in critical care.

Objective This study examines the factors influencing oral frailty in the elderly community,develops a risk prediction model,and validates its efficacy,so as to provide references for identifying and preventing oral weakness in the elderly.Methods 556 elderly individuals from 4 communities were selected by convenience sampling from June to August 2024 in Zigong City Sichuan Province.They were randomly divided into a training group(383 cases)and a validation group(165 cases).Data were collected by a general information questionnaire,Social Frailty Scale,Geriatric Depression Scale,and the Oral Frailty Index-8 screening tool.Logistic regression was used to determine the influencing factors,and R software was used to establish a nomogram model for predicting the risk of oral frailty.Bootstrap method and the validation group were used for internally validation of the model.Calibration curve was used to evaluate the prediction performance of the model.Results 548 valid questionnaires were collected.The final model variables included whether the age ≥80 years,wearing removable dentures,reduced frequency of going out,brushing teeth less than twice a day,frequent dry mouth,increased difficulty in eating hard foods,and choking.The area under the receiver operating characteristic curve of the training group was 0.95(95％CI:0.93～0.97),and the best cutoff value was 0.687.The model achieved an accuracy of 87％,sensitivity of 91％,specificity of 85％,positive predictive value of 0.75,and negative predictive value of 0.95.The Hosmer-Lemeshow fitting test show that x2=3.036,P=0.932,indicating a good model fit.Conclusion The oral frailty prediction model demonstrated a good discrimination,calibration,and clinical utility,which can provide a scientific basis for the prevention and early screening of oral frailty in the elderly.

Objective This study aimed to apply the integrated Promoting Action on Research Implementation in Health Services(i-PARIHS)framework to translate best evidence into clinical practice,with the goal of reducing unplanned discontinua-tion of continuous renal replacement therapy(CRRT)and providing guidance for clinical staff.Methods A systematic search was conducted for guidelines,systematic reviews,evidence summaries,and expert consensus documents related to unplanned CRRT discontinuation.Retrieved literature underwent quality appraisal,synthesis,and integration.Through evidence-based group discussions,baseline clinical audits,and FAME(Feasibility,Appropriateness,Meaningfulness,Effectiveness)-based evi-dence appraisal,implementation strategies were developed across three i-PARIHS dimensions:context,recipients,and facilita-tion.Outcomes including unplanned CRRT discontinuation rates,average length of hospital stay,mortality,and nurse competen-cy were compared before and after evidence implementation.Results After evidence extraction,synthesis,and contextual adap-tation,a site-specific evidence translation model was established,comprising 16 audit criteria with corresponding review methods.Following implementation,significant reductions were observed in unplanned CRRT discontinuation rates,average length of stay,and mortality(all P＜0.05).Nurses' nursing competency also improved significantly(P＜0.05),indicating a positive impact of the evidence translation initiative.Conclusion The i-PARIHS framework effectively reduces unplanned CRRT discontinuation and is applicable in clinical practice.The results offer evidence for improving nursing quality and offering a reference for future evidence translation initiatives in critical care.

Objective To investigate the effect of oxymatrine on the brain damage of rats with acute carbon monoxide(CO)poisoning through the sirtuin 1(SIRT1)/forkhead box protein O1(FOXO1)signaling pathway.Methods SD rats were used to establish an acute CO poisoning rat model,after intervention with low,medium,and high doses of oxymatrine and edaravone,the cognitive function of the rats was tested using shuttle box experiments to screen for the optimal dosage of oxymatrine.Construct a rat model of acute CO poisoning againand randomly divide it into five groups:control group,model group,oxymatrine group,edaravone group,EX527(SIRT1 inhibitor)group,and oxymatrine+EX527 group,the model group and drug intervention groupinhaled CO gas to construct acute CO poisoning rat model.After drug intervention,the shuttle box experiment was used to detect the cognitive function in rats,the step-through latency(STL)and the total time spent in the dark chamber(TDC)of each group were compared;fluorescent probe was performed to measure the mitochondrial membrane potential of rat brain tissue;TUNEL staining was performed to detect the apoptosis rate of hippocampal neurons in the rat brain;the kit was performed to determine the levels of serum inflammatory factors and the oxidative stress factor;immunoblotting and immunoprecipitation experimentswas performed to determine the expression of SIRT1/FOXO1 pathway protein.Results Compared with the control group,the STL,brain mitochondrial membrane potential,serum SOD level,and brain tissue SIRT1 protein expression in the model group were significantly reduced(P＜0.05),and the TDC,neuron apoptosis rate,serum ROS,PGE2,TNF-α,IL-18 and MDA levels,and brain tissue acely-FOXO1/FOXO1 were significantly increased(P＜0.05).Compared with the model group and the oxymatrine+EX527 group,the STL,brain mitochondrial membrane potential,serum SOD level,and brain tissue SIRT1 protein expression were all increased in the oxymatrine group(P＜0.05),and the TDC,neuron apoptosis rate,serum ROS,PGE2,TNF-α,IL-18 and MDA levels,and brain tissue acely-FOXO1/FOXO1 were all decreased(P＜0.05);the trend of changes in various indicators in the EX527 group is opposite to that of the oxymatrine group(P＜0.05).There was no significant change in the levels of various indicators between the edaravone group and the high-dose oxymatrine group(P＞0.05).Conclusion Oxymatrine can activate SIRT1/FOXO1 signal to reduce inflammation and oxidative stress in rats,inhibit hippocampal neuronal apoptosis,repair brain mitochondrial function,enhance cognitive ability of rats,and improve brain damage of acute CO poisoning rats.

Objective To investigate the effect of oxymatrine on the brain damage of rats with acute carbon monoxide(CO)poisoning through the sirtuin 1(SIRT1)/forkhead box protein O1(FOXO1)signaling pathway.Methods SD rats were used to establish an acute CO poisoning rat model,after intervention with low,medium,and high doses of oxymatrine and edaravone,the cognitive function of the rats was tested using shuttle box experiments to screen for the optimal dosage of oxymatrine.Construct a rat model of acute CO poisoning againand randomly divide it into five groups:control group,model group,oxymatrine group,edaravone group,EX527(SIRT1 inhibitor)group,and oxymatrine+EX527 group,the model group and drug intervention groupinhaled CO gas to construct acute CO poisoning rat model.After drug intervention,the shuttle box experiment was used to detect the cognitive function in rats,the step-through latency(STL)and the total time spent in the dark chamber(TDC)of each group were compared;fluorescent probe was performed to measure the mitochondrial membrane potential of rat brain tissue;TUNEL staining was performed to detect the apoptosis rate of hippocampal neurons in the rat brain;the kit was performed to determine the levels of serum inflammatory factors and the oxidative stress factor;immunoblotting and immunoprecipitation experimentswas performed to determine the expression of SIRT1/FOXO1 pathway protein.Results Compared with the control group,the STL,brain mitochondrial membrane potential,serum SOD level,and brain tissue SIRT1 protein expression in the model group were significantly reduced(P＜0.05),and the TDC,neuron apoptosis rate,serum ROS,PGE2,TNF-α,IL-18 and MDA levels,and brain tissue acely-FOXO1/FOXO1 were significantly increased(P＜0.05).Compared with the model group and the oxymatrine+EX527 group,the STL,brain mitochondrial membrane potential,serum SOD level,and brain tissue SIRT1 protein expression were all increased in the oxymatrine group(P＜0.05),and the TDC,neuron apoptosis rate,serum ROS,PGE2,TNF-α,IL-18 and MDA levels,and brain tissue acely-FOXO1/FOXO1 were all decreased(P＜0.05);the trend of changes in various indicators in the EX527 group is opposite to that of the oxymatrine group(P＜0.05).There was no significant change in the levels of various indicators between the edaravone group and the high-dose oxymatrine group(P＞0.05).Conclusion Oxymatrine can activate SIRT1/FOXO1 signal to reduce inflammation and oxidative stress in rats,inhibit hippocampal neuronal apoptosis,repair brain mitochondrial function,enhance cognitive ability of rats,and improve brain damage of acute CO poisoning rats.

Objective:To explore the impact of the two-way referral model on compliance and prognosis in patients with heart failure.Methods:This bidirectional cohort study enrolled chronic heart failure (CHF) patients treated at Qilu Hospital of Shandong University or designated primary hospitals between March 2018 and March 2022. Patients were categorized into two groups based on referral status: two-way referral group (participating in the referral model with≥1 follow-up visit at primary hospitals) and the core hospital group (receiving treatment and follow-up exclusively at Qilu Hospital). Baseline clinical characteristics were collected and compared between groups. Patients underwent followed-up, with primary endpoints including follow-up rate, drug (β-blockers, angiotension converting enzyme inhibitor (ACEI)/angiotensin Ⅱ receptor blockers (ARB)/angiotensin receptor-neprilysin inhibitor (ARNI), sodium-glucose cotransporter 2 inhibitors and mineralocorticoid receptor antagonists) utilization rate and target dose achievement rate. Secondary endpoints encompassed changes from baseline in left ventricular ejection fraction (LVEF), left ventricular end-diastolic diameter (LVEDd), and N-terminal pro-brain natriuretic peptide (NT-proBNP), plus cardiovascular mortality and heart failure rehospitalization. Generalized linear mixed models analyzed longitudinal trends in LVEF, LVEDd, and NT-proBNP levels. Kaplan-Meier curves and Cox regression evaluated LVEF recovery rates, supplemented by subgroup analyses. Multivariate logistic regression was used to identify factors influencing target dose achievement rate for β-blockers and ACEI/ARB/ARNI therapies in CHF patients.Results:A total of 357 patients were enrolled, aged 53 (41, 63) years, including 256 males (71.7%). 157 patients were in the two-way referral group and 200 patients in the core hospital-treated group. Compared with the core hospital-treated group, the two-way referral group had lower baseline LVEF (28 (22, 34)% vs. 31 (23, 36)%, P=0.021) and systolic blood pressure (116 (104, 125) mmHg vs. 121 (109, 134) mmHg (1 mmHg=0.133 kPa), P=0.010). The 12-month follow-up rate of the two-way referral group was higher than the core hospital-treated group (73.8% vs. 56.0%, P=0.004). No significant between-group differences were observed in drug utilization rate of β-blockers, ACEI/ARB/ARNI, or sodium-glucose cotransporter 2 inhibitors during follow-up (all P>0.05), while mineralocorticoid receptor antagonists use showed a declining trend in both groups. Although the core hospital-treated group had higher target dose achievement rates for β-blockers (65.4% vs. 49.3%, P=0.042) and ACEI/ARB/ARNI (79.8% vs. 65.8%, P=0.046) than the two-way referral group, multivariate logistic regression indicated that the two-way referral model was not a negative predictor for these outcomes (all P>0.05). Both groups showed improved NT-proBNP, LVEDd, and LVEF from baseline (all P<0.001) with no significant difference in trends between groups (all P>0.05). There was no significant difference in the composite incidence (7.6% vs. 6.5%, P=0.674) and cumulative incidence (log-rank P=0.684) of cardiovascular death and heart failure rehospitalization at 12 months between two groups. Conclusion:The two-way referral model demonstrates advantages in improving medication adherence, drug utilization rates, and targetdoseachievement rates among CHF patients. This model not only promotes cardiac functional recovery but also reduces risks of cardiovascular mortality and heart failure rehospitalization, achieving comparable therapeutic and management outcomes to those observed in core hospital-treated patients.